ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)

gnomAD frequency: 0.00003  dbSNP: rs397517701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040610 SCV000064301 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001703908 SCV000237548 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798180 SCV002042647 uncertain significance Cardiomyopathy 2020-05-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001703908 SCV003824796 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing

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